Journal of Biochemical and Clinical Genetics

Journal Information
ISSN : 1658-807X
Published by: Discover STM Publishing Ltd (10.24911)
Total articles ≅ 91
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Abdulla Alblooshi,
Journal of Biochemical and Clinical Genetics; https://doi.org/10.24911/jbcgenetics/183-1645370249

Abstract:
Background: Single gene mutations are important causes of glomerular disease in children. Of these genes, mutations in the FAT1 gene have been recently described in the literature as a cause of nephropathy in isolated form or multi-system involvement. The spectrum of renal disease associated with FAT1 gene mutations varies from asymptomatic proteinuria and hematuria to severe nephrotic syndrome and end-stage renal disease. Case Presentation: In this case report, we describe a 3-year-old child and two other family members with a novel frameshift homozygous mutation in the FAT1 gene consistent with the diagnosis of autosomal recessive colobomatous-microphthalmia, ptosis, nephropathy and syndactyly syndrome with variable expression of the phenotype. Conclusion: This report adds to the genotype-phenotype correlation, highlighting the clinical importance of considering FAT1 gene defects as part of the differential diagnosis for congenital ptosis, syndactyly and nephropathy, especially with multiple affected family members.
Khloud Rubaya, Faten AlMijmaj, Talal AlAnzi, Abdullah Aljasser
Journal of Biochemical and Clinical Genetics; https://doi.org/10.24911/jbcgenetics/183-1631602838

Abstract:
Background: Isolated hypoparathyroidism comprises a set of heterogeneous inherited diseases associated with abnormal calcium metabolism exclusively due to parathyroid hormone (PTH) deficiency. Isolated hyperparathyroidism can be either sporadic or inherited. Genetic causes that impair the synthesis or secretion of PTH, such as calcium-sensing receptor and PTH defects, or defects in the development of the parathyroid gland [glial cell missing 2, (GCM2)], have been established as causes of familial isolated hypoparathyroidism. Transcription factor GCM2 is a crucial regulator of parathyroid gland homeostasis. Transmission of pathogenic variants encoding GCM2 occurs in an autosomal recessive or dominant manner. Case Presentation: Herein, we describe the case of a 12-year-old boy, born to consanguineous parents, who presented with abnormal movement during the first week of birth. Laboratory results revealed hypocalcemia, hyperphosphatemia, and low PTH levels. Genetic testing detected a novel homozygous variant in the GCM2 gene, c.391C>T (p.Arg131*). Although this variant has not been previously described, it is likely the pathogenic cause of this condition. Conclusion: To the best of authors’ knowledge, this variant has not been listed in any database. Proper replacement therapy is likely to have good long-term outcomes for our patient.
Ghaliah Alnefaie, Atheer Alfuhayd, Majed Bahader, Razan Alhumyani, Abdulhameed Sarriyah, Atheer Alshanbari, Kholood Althobaiti
Journal of Biochemical and Clinical Genetics; https://doi.org/10.24911/jbcgenetics/183-1647436069

, Anas Alyazidi
Journal of Biochemical and Clinical Genetics; https://doi.org/10.24911/jbcgenetics/183-1646057756

Abstract:
Background: Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a heterozygous deletion in the 22 chromosome at 22q13 region or by a heterozygous pathogenic variant in SHANK3 gene. PMS is one of the important etiologies in children presenting mainly with intellectual delay, epilepsy or autism spectrum disorder. Case presentation: We describe a case of a 9-year-old male with a non-specific neurodevelopmental disorder characterized by early signs of autism noticed from the age of 2 years. During his infancy, the patient exhibited slow gain of his milestones. He was later diagnosed with PMS, speech and intellectual disability. Conclusion: This study presented a novel case of a patient diagnosed with PMS in Saudi Arabia. Therefore, highlighting the clinical findings is essential to establish a common understanding of the disease. Patient education and awareness is a major part of management plan since many families might require further explanation as they might require to deliver a special education to their children affected by the syndrome. PMS is gaining great interest in research and patient awareness.
Shirin Sharfa, Rawda Sunbul, Zainab Masseri, Moeenaldeen AlSayed, Zuhair Al-Hassnan
Journal of Biochemical and Clinical Genetics; https://doi.org/10.24911/jbcgenetics/183-1630496130

Abstract:
Background: MADD (also known as glutaric aciduria II) is a rare autosomal recessively inherited disorder of Inborn error of metabolism. It can mainly be presented in three phenotypes: severe neonatal onset with a dysmorphic feature, neonatal-onset without dysmorphic features, and less severe mild late-onset phenotype. Case presentation: A 34 years old Saudi female previously healthy, Para 4, with severe metabolic acidosis, rhabdomyolysis intra-partum was presented to us. Her previous pregnancy history and deliveries were unremarkable; she has 3 healthy sons. Since the beginning of this pregnancy, she complained of fatigability and muscle weakness which was progressive with time. At 36 weeks of gestation, she was presented to emergency room with labour pain. She deteriorated rapidly with significant drowsiness. Her arterial blood gas showed severe metabolic acidosis with a high anion gap and normal lactate. She was intubated and underwent emergency caesarean delivery under General anaesthesia. After the operation, she was sent to the intensive care unit. She passed away after a few days. A molecular test confirmed the diagnosis of MADD. Conclusion: First, late-onset MADD is a rare, underdiagnosed disease in adults. Second, the Biochemical diagnosis of late-onset MADD is challenging as it mimics Medium Chain Acyl Co. A Dehydrogenase Deficiency (MCAD deficiency) makes the molecular diagnosis essential for diagnosis. Third, for any unexplained myopathy, cardiac dysfunction, encephalopathy, or metabolic acidosis, metabolic disorders must be considered early consultation with metabolic service.
Maria Paiva, Dayanna Queiroz, Celso Junior, Constantino Cartaxo, Marina Coelho, Rafaella Pordeus, Rafaela Lima, Darlene Persuhn, Alexandre Silva, Naila Oliveira, et al.
Journal of Biochemical and Clinical Genetics pp 76-84; https://doi.org/10.24911/jbcgenetics/183-1613502878

Hadil Alahdal, Huda Alshanbari, Hana AlMazroa, Sarah Alayesh, Alaa Alrhaili, Nora Alqubi, Fai AlZamil, Reem Albassam
Journal of Biochemical and Clinical Genetics pp 27-34; https://doi.org/10.24911/jbcgenetics/183-1601264923

Lamya Alrayes, Mohammed Alotaibi, Afaf AlSagheir
Journal of Biochemical and Clinical Genetics pp 48-50; https://doi.org/10.24911/jbcgenetics/183-1606918375

Osama Allah, Alshimaa AbdelAll, Madeha Zakhary, Nagwa Ahmed, Asmaa Goda
Journal of Biochemical and Clinical Genetics pp 14-21; https://doi.org/10.24911/jbcgenetics/183-1598435875

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